Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.

Abstract

PURPOSE:

To present the clinical and electrophysiological findings in four members of a family with Best vitelliform macular dystrophy (BVMD) and angle-closure glaucoma (ACG).

METHODS:

Four members of a family with BVMD were examined clinically, including visual acuity, slit-lamp examination, biomicroscopy, Goldmann applanation tonometry and gonioscopy. Measurements of the anterior chamber depth and axial length, visual field, optical coherence tomography, full-field electroretinography, multifocal electroretinography and electrooculography were performed. In addition molecular genetic analysis of the bestrophin-1 gene (BEST1), the microphthalmia-associated transcription factor gene (MITF) and the cone-rod homeobox gene (CRX) were performed.

RESULTS:

Four family members with the c.253T>C p.Y85H mutation in the BEST1 gene and BVMD in different stages also exhibited anterior segment abnormalities such as shallow anterior chambers (two cases), and reduced axial lengths in all cases. Microphthalmos (axial length ≤ 20mm) was found in the index patient and in her son. Hyperopia was found in all four examined patients. Closed angles/narrow angles were observed in patients with microphthalmos. The index patient developed ACG at the age of 12 years. Her son inherited microphthalmos, severe hyperopia, and narrow angles. He is at risk of developing ACG. No pathogenic mutation of the MITF or the CRX genes was detected in the index patient.

CONCLUSIONS:

BVMD could be associated with anterior segment abnormalities such as shallow anterior chambers, closed/narrow anterior chamber angles and ACG. Ophthalmologists should be aware of the association between ACG and BVMD. Examination of the anterior segment, gonioscopy and intraocular pressure control are recommended in patients with BVMD.

• Authors: Elisabeth Wittström, Vesna Ponjavic, Marie-Louise Bondeson, Sten Andréasson
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 32 Issue 4 Pg. 217-27 (Nov 2011) ISSN: 1744-5094 [Electronic] England
• PMID: 21473666 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• BEST1 protein, human
• Bestrophins
• Chloride Channels
• Eye Proteins
• Homeodomain Proteins
• MITF protein, human
• Microphthalmia-Associated Transcription Factor
• Trans-Activators
• cone rod homeobox protein

Topics

• Adult
• Aged
• Anterior Eye Segment (abnormalities, diagnostic imaging)
• Bestrophins
• Child
• Chloride Channels (genetics)
• DNA Mutational Analysis
• Electroretinography
• Eye Proteins (genetics)
• Female
• Glaucoma, Angle-Closure (diagnosis, genetics)
• Gonioscopy
• Homeodomain Proteins (genetics)
• Humans
• Intraocular Pressure (physiology)
• Male
• Microphthalmia-Associated Transcription Factor (genetics)
• Microscopy, Acoustic
• Mutation, Missense
• Pedigree
• Polymerase Chain Reaction
• Tomography, Optical Coherence
• Tonometry, Ocular
• Trans-Activators (genetics)
• Visual Acuity (physiology)
• Visual Fields
• Vitelliform Macular Dystrophy (diagnosis, genetics)